ClinVar Miner

List of variants in gene TTBK2 studied for cerebellar disorder

Included ClinVar conditions (275):
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Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_173500.4(TTBK2):c.-250G>C rs12437637 0.57925
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.47359
NM_173500.4(TTBK2):c.-8G>A rs16957250 0.08720
NM_173500.4(TTBK2):c.*482C>G rs16957120 0.06388
NM_173500.4(TTBK2):c.3251C>T (p.Thr1084Met) rs34348991 0.02971
NM_173500.4(TTBK2):c.*583A>T rs116853892 0.02725
NM_173500.4(TTBK2):c.*678A>G rs78237254 0.02688
NM_173500.4(TTBK2):c.3669C>T (p.His1223=) rs74398902 0.01170
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=) rs56307230 0.01001
NM_173500.4(TTBK2):c.*1162T>A rs79592696 0.00943
NM_173500.4(TTBK2):c.*966C>T rs145576687 0.00571
NM_173500.4(TTBK2):c.2133C>A (p.Phe711Leu) rs76000738 0.00477
NM_173500.4(TTBK2):c.980+8C>A rs143836514 0.00447
NM_173500.4(TTBK2):c.*1311G>A rs148272721 0.00429
NM_173500.4(TTBK2):c.937A>G (p.Thr313Ala) rs56017612 0.00284
NM_173500.4(TTBK2):c.2210T>C (p.Ile737Thr) rs146515654 0.00267
NM_173500.4(TTBK2):c.1059C>T (p.Ser353=) rs200405805 0.00172
NM_173500.4(TTBK2):c.*1463G>A rs571544379 0.00160
NM_173500.4(TTBK2):c.*581A>T rs575564250 0.00142
NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile) rs55833708 0.00138
NM_173500.4(TTBK2):c.3331C>G (p.Leu1111Val) rs144199562 0.00136
NM_173500.4(TTBK2):c.2941C>G (p.Leu981Val) rs180791005 0.00124
NM_173500.3(TTBK2):c.-413G>C rs528520159 0.00096
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His) rs146279300 0.00094
NM_173500.4(TTBK2):c.*1153G>A rs781080005 0.00093
NM_173500.4(TTBK2):c.-321C>A rs760435890 0.00070
NM_173500.4(TTBK2):c.*580T>A rs544516599 0.00061
NM_173500.4(TTBK2):c.*744G>A rs769283772 0.00058
NM_173500.4(TTBK2):c.-279C>A rs866690514 0.00038
NM_173500.4(TTBK2):c.3021A>G (p.Leu1007=) rs201662235 0.00038
NM_173500.4(TTBK2):c.-130G>C rs886051164 0.00035
NM_173500.4(TTBK2):c.*185A>G rs376104201 0.00034
NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro) rs200124857 0.00029
NM_173500.4(TTBK2):c.2171G>A (p.Gly724Glu) rs201524659 0.00027
NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp) rs200125366 0.00024
NM_173500.4(TTBK2):c.*967G>A rs569220743 0.00019
NM_173500.4(TTBK2):c.-51C>T rs374364415 0.00019
NM_173500.4(TTBK2):c.*490T>C rs142589086 0.00018
NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=) rs199635198 0.00016
NM_173500.4(TTBK2):c.*536T>C rs902865683 0.00013
NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile) rs764753481 0.00013
NM_173500.4(TTBK2):c.2418A>G (p.Pro806=) rs185441376 0.00013
NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr) rs36104367 0.00011
NM_173500.4(TTBK2):c.-68+15C>G rs886051163 0.00010
NM_173500.4(TTBK2):c.3420A>G (p.Pro1140=) rs201347313 0.00008
NM_173500.4(TTBK2):c.*33A>C rs149561490 0.00006
NM_173500.4(TTBK2):c.*847T>C rs567667407 0.00006
NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys) rs200437800 0.00005
NM_173500.4(TTBK2):c.2831G>A (p.Arg944Gln) rs201348630 0.00004
NM_173500.4(TTBK2):c.*598G>A rs774535951 0.00003
NM_173500.4(TTBK2):c.2278C>T (p.Pro760Ser) rs117382379 0.00003
NM_173500.4(TTBK2):c.2291G>A (p.Arg764Lys) rs767399781 0.00003
NM_173500.4(TTBK2):c.2295G>T (p.Leu765=) rs751381521 0.00003
NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser) rs576737530 0.00003
NM_173500.4(TTBK2):c.3539G>A (p.Ser1180Asn) rs200469913 0.00003
NM_173500.4(TTBK2):c.-282A>C rs949605219 0.00002
NM_173500.4(TTBK2):c.2525A>G (p.Glu842Gly) rs202004988 0.00002
NM_173500.4(TTBK2):c.3517C>T (p.Arg1173Trp) rs373828657 0.00002
NM_173500.4(TTBK2):c.*1243C>T rs1182692526 0.00001
NM_173500.4(TTBK2):c.-184G>C rs1439973590 0.00001
NM_173500.4(TTBK2):c.1173C>G (p.Asn391Lys) rs759246710 0.00001
NM_173500.4(TTBK2):c.1360C>T (p.Arg454Cys) rs758352842 0.00001
NM_173500.4(TTBK2):c.1930G>C (p.Ala644Pro) rs756629999 0.00001
NM_173500.4(TTBK2):c.2344A>G (p.Ile782Val) rs749726502 0.00001
NM_173500.4(TTBK2):c.304G>T (p.Ala102Ser) rs201683789 0.00001
NM_173500.4(TTBK2):c.3336C>G (p.Ala1112=) rs769037057 0.00001
NM_173500.4(TTBK2):c.3427A>G (p.Ser1143Gly) rs777159553 0.00001
NM_173500.4(TTBK2):c.589G>A (p.Ala197Thr) rs367612243 0.00001
NM_173500.4(TTBK2):c.*507T>G rs886051162
NM_173500.4(TTBK2):c.*548C>T rs1782579071
NM_173500.4(TTBK2):c.*604T>C rs886051161
NM_173500.4(TTBK2):c.*690dup rs886051160
NM_173500.4(TTBK2):c.*953A>G rs934539405
NM_173500.4(TTBK2):c.-125C>G rs1428784964
NM_173500.4(TTBK2):c.-281GCC[5] rs377202784
NM_173500.4(TTBK2):c.1237G>T (p.Gly413Cys) rs1889967626
NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs) rs80356539
NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs) rs318240735
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs) rs80356538
NM_173500.4(TTBK2):c.1498C>A (p.Arg500Ser) rs577577749
NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro) rs56039839
NM_173500.4(TTBK2):c.1499G>T (p.Arg500Leu) rs56039839
NM_173500.4(TTBK2):c.1675del (p.Gln559fs) rs2140757755
NM_173500.4(TTBK2):c.2030C>G (p.Thr677Arg)
NM_173500.4(TTBK2):c.2107G>A (p.Glu703Lys)
NM_173500.4(TTBK2):c.239T>A (p.Phe80Tyr) rs778218227
NM_173500.4(TTBK2):c.2476A>G (p.Thr826Ala)
NM_173500.4(TTBK2):c.2720A>G (p.Glu907Gly) rs1476451255
NM_173500.4(TTBK2):c.2928A>T (p.Pro976=) rs1567000293
NM_173500.4(TTBK2):c.2980G>T (p.Asp994Tyr) rs377620628
NM_173500.4(TTBK2):c.322C>T (p.Gln108Ter) rs2140986045
NM_173500.4(TTBK2):c.331G>A (p.Gly111Ser)
NM_173500.4(TTBK2):c.3329G>T (p.Arg1110Leu) rs146279300
NM_173500.4(TTBK2):c.3432A>G (p.Pro1144=) rs2061791617
NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter) rs770444240
NM_173500.4(TTBK2):c.3584_3601del (p.Ser1195_Arg1201delinsTrp) rs1566996154
NM_173500.4(TTBK2):c.571C>A (p.Arg191Ser) rs563297091
NM_173500.4(TTBK2):c.700C>A (p.Gln234Lys) rs933067569
NM_173500.4(TTBK2):c.820C>A (p.Gln274Lys)

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